Scientists discover how Tibetan people can live at high altitudes: 8,000 year-old genetic mutation enables them to survive with less oxygen
By Jonathan O'Callaghan for MailOnline
• Researchers say Tibetans have a genetic variation that enables them to survive in high
altitude, low oxygen environments
• This could explain how they can survive at heights of 14,800 feet (4,510m)
• The mutation is believed to have originated 8,000 years ago
• It gives them a selective advantage in their environment over other humans
• Finding could lead to novel solutions for diseases such as cancer
• Tibet is a high-altitude plateau region north-east of the Himalayas in China
Sure, Wolverine's claws were impressive, but how would one of the most famous X-Men have coped if he'd tried to survive at a height of over 14,000ft (4,270 metres)?
The answer would most likely be 'not well', but while off-limits to some, it turns out that people such as Tibetans can thrive in the thin air of high-altitude areas thanks to an 8,000 year-old mutation.
Researchers say they've successfully identified this genetic variation for the first time, and it could explain how some people can survive in these extreme environments.
Researchers say Tibetans (pictured) have a genetic variation that enables them to survive in high altitude, low oxygen environments. This could explain how they can survive at heights of 14,800 feet (4,510m)
The research from the University of Utah appears in the journal Nature Genetics and looked at areas such as the Tibetan Plateau.
'These findings help us understand the unique aspects of Tibetan adaptation to high altitudes, and to better understand human evolution,' said Dr Josef Prchal, senior author and University of Utah professor of internal medicine.
In 2010 Prchal’s group was the first to establish that there was a genetic basis to Tibetan high altitude adaptation.
Since then, together with Dr Felipe Lorenzo, the team have proved that the DNA of Tibetans has a slight variation that prevents their body struggling with a lack of oxygen.
Instead, 88 per cent of Tibetans have the mutation that enables their bodies to thrive in low-oxygen environments, something that is virtually absent from closely related lowland Asians.
It is believed the change began 8,000 years ago, when the gene EGLN1 changed by a single DNA base pair.
The findings indicate the tiny genetic change endows its carriers with a selective advantage.
HOW THE RESEARCHERS OVERCAME THE RECLUSIVE NATURE OF TIBETANS
For his research, Dr Prchal needed Tibetans to donate blood, from which he could extract their DNA, a task that turned out to be more difficult than he ever imagined.
It took several trips to Asia, meeting with Chinese officials and representatives of exiled Tibetans in India, to get the necessary permissions to recruit subjects for the study.
But he quickly learned that official documents would not be enough.
Wary of foreigners, the Tibetans refused to participate.
To earn the Tibetans’ trust, Dr Prchal obtained a letter of support from the Tibetan spiritual leader, the Dalai Lama.
'The Dalai Lama felt that a better understanding of the adaptation would be helpful not only to the Tibetan community but also to humanity at large,' said Dr Prchal.
He also enlisted the help of native Dr Tibetan Tsewang Tashi, an author and clinical fellow at the Huntsman Cancer Institute at the University of Utah.
More than 90 Tibetans, both from the US and abroad, ultimately volunteered for the study.
When traveling with Dr Tashi in Asia, Dr Prchal was surprised at how he got Tibetans to grasp the research they were being asked to take part in.
Dr Tashi simply helped them realise that their ability to adapt to life at high altitude was unique.
'They usually responded by a little initial surprise quickly followed by agreement,' said Dr Tashi.
'It was as if I made them realise something new, which only then became obvious.'
The mutation, believed to have originated 8,000 years ago, gives Tibetans a selective advantage in their environment over other humans. The finding could lead to novel solutions for diseases such as cancer. Tibet is a high-altitude plateau region north-east of the Himalayas in China (shown)
For his research, Dr Prchal (shown) needed Tibetans to donate blood, from which he could extract their DNA, a task that turned out to be more difficult than he ever imagined. It took several trips to Asia, meeting with Chinese officials and representatives of exiled Tibetans in India, to get the necessary
Dr Prchal collaborated with experts throughout the world, including co-senior author Dr Peppi Koivunen from Biocenter Oulu in Finland, to determine that the newly identified genetic variation protects Tibetans by decreasing an aversive over-response to low oxygen.
In those without the adaptation, the thin air causes their blood to become thick with oxygen-carrying red blood cells, often causing long-term complications such as heart failure.
The EGLN1 variation however, together with other unidentified genetic changes, collectively supports life at high altitudes.
Dr Prchal says the research also has broader implications.
Because oxygen plays a central role in human physiology and disease, a deep understanding of how high altitude adaptations work may lead to novel treatments for various conditions, including cancer.
'There is much more that needs to be done, and this is just the beginning,' he said.
Read more: http://www.dailymail.co.uk/sciencetech/article-2727962/Tibetan-ability-live-high-altitudes-revealed-8-000-year-old-genetic-mutation-enables-survive-oxygen.html#ixzz3BO6Spylu
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• Researchers say Tibetans have a genetic variation that enables them to survive in high
altitude, low oxygen environments
• This could explain how they can survive at heights of 14,800 feet (4,510m)
• The mutation is believed to have originated 8,000 years ago
• It gives them a selective advantage in their environment over other humans
• Finding could lead to novel solutions for diseases such as cancer
• Tibet is a high-altitude plateau region north-east of the Himalayas in China
Sure, Wolverine's claws were impressive, but how would one of the most famous X-Men have coped if he'd tried to survive at a height of over 14,000ft (4,270 metres)?
The answer would most likely be 'not well', but while off-limits to some, it turns out that people such as Tibetans can thrive in the thin air of high-altitude areas thanks to an 8,000 year-old mutation.
Researchers say they've successfully identified this genetic variation for the first time, and it could explain how some people can survive in these extreme environments.
Researchers say Tibetans (pictured) have a genetic variation that enables them to survive in high altitude, low oxygen environments. This could explain how they can survive at heights of 14,800 feet (4,510m)
The research from the University of Utah appears in the journal Nature Genetics and looked at areas such as the Tibetan Plateau.
'These findings help us understand the unique aspects of Tibetan adaptation to high altitudes, and to better understand human evolution,' said Dr Josef Prchal, senior author and University of Utah professor of internal medicine.
In 2010 Prchal’s group was the first to establish that there was a genetic basis to Tibetan high altitude adaptation.
Since then, together with Dr Felipe Lorenzo, the team have proved that the DNA of Tibetans has a slight variation that prevents their body struggling with a lack of oxygen.
Instead, 88 per cent of Tibetans have the mutation that enables their bodies to thrive in low-oxygen environments, something that is virtually absent from closely related lowland Asians.
It is believed the change began 8,000 years ago, when the gene EGLN1 changed by a single DNA base pair.
The findings indicate the tiny genetic change endows its carriers with a selective advantage.
HOW THE RESEARCHERS OVERCAME THE RECLUSIVE NATURE OF TIBETANS
For his research, Dr Prchal needed Tibetans to donate blood, from which he could extract their DNA, a task that turned out to be more difficult than he ever imagined.
It took several trips to Asia, meeting with Chinese officials and representatives of exiled Tibetans in India, to get the necessary permissions to recruit subjects for the study.
But he quickly learned that official documents would not be enough.
Wary of foreigners, the Tibetans refused to participate.
To earn the Tibetans’ trust, Dr Prchal obtained a letter of support from the Tibetan spiritual leader, the Dalai Lama.
'The Dalai Lama felt that a better understanding of the adaptation would be helpful not only to the Tibetan community but also to humanity at large,' said Dr Prchal.
He also enlisted the help of native Dr Tibetan Tsewang Tashi, an author and clinical fellow at the Huntsman Cancer Institute at the University of Utah.
More than 90 Tibetans, both from the US and abroad, ultimately volunteered for the study.
When traveling with Dr Tashi in Asia, Dr Prchal was surprised at how he got Tibetans to grasp the research they were being asked to take part in.
Dr Tashi simply helped them realise that their ability to adapt to life at high altitude was unique.
'They usually responded by a little initial surprise quickly followed by agreement,' said Dr Tashi.
'It was as if I made them realise something new, which only then became obvious.'
The mutation, believed to have originated 8,000 years ago, gives Tibetans a selective advantage in their environment over other humans. The finding could lead to novel solutions for diseases such as cancer. Tibet is a high-altitude plateau region north-east of the Himalayas in China (shown)
For his research, Dr Prchal (shown) needed Tibetans to donate blood, from which he could extract their DNA, a task that turned out to be more difficult than he ever imagined. It took several trips to Asia, meeting with Chinese officials and representatives of exiled Tibetans in India, to get the necessary
Dr Prchal collaborated with experts throughout the world, including co-senior author Dr Peppi Koivunen from Biocenter Oulu in Finland, to determine that the newly identified genetic variation protects Tibetans by decreasing an aversive over-response to low oxygen.
In those without the adaptation, the thin air causes their blood to become thick with oxygen-carrying red blood cells, often causing long-term complications such as heart failure.
The EGLN1 variation however, together with other unidentified genetic changes, collectively supports life at high altitudes.
Dr Prchal says the research also has broader implications.
Because oxygen plays a central role in human physiology and disease, a deep understanding of how high altitude adaptations work may lead to novel treatments for various conditions, including cancer.
'There is much more that needs to be done, and this is just the beginning,' he said.
Read more: http://www.dailymail.co.uk/sciencetech/article-2727962/Tibetan-ability-live-high-altitudes-revealed-8-000-year-old-genetic-mutation-enables-survive-oxygen.html#ixzz3BO6Spylu
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